Research progress of hereditary optic neuropathy associated with <i>OPA</i> gene mutations_Chinese Journal of Ocular Fundus Diseases

Authors：

Jin Miao ,  Jiang Libin

Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China;

Corresponding author：

Jiang Libin, Email: jlbjlb@sina.com

Keywords：

Nuclear gene; Hereditary optic neuropathy; Optic atrophy; OPA gene mutation; Review

DOI：

10.3760/cma.j.cn511434-20240313-00103

Video：

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Mutations in optic atrophy (OPA) genes can lead to a similar phenotype, namely optic atrophy, which can manifest as isolated optic atrophy or be accompanied by other systemic symptoms, mostly related to the nervous system. Currently, a total of 13 OPA genes have been discovered, covering a variety of inheritance patterns, including chromosomal dominant inheritance, autosomal recessive inheritance, and X-linked inheritance. Through genetic testing and analysis of patients, it is possible to accurately determine whether they carry mutation genes related to optic atrophy, and predict the progression of the disease and potential complications accordingly. This not only provides valuable genetic counseling and fertility planning guidance for patients and their families, but also helps better understand the disease, discover new therapeutic targets, and lay the foundation for developing more precise and effective drugs or gene therapies in the future.

Citation： Jin Miao, Jiang Libin. Research progress of hereditary optic neuropathy associated with OPA gene mutations. Chinese Journal of Ocular Fundus Diseases, 2024, 40(7): 554-559. doi: 10.3760/cma.j.cn511434-20240313-00103 Copy

1.	Yu-Wai-Man P, Griffiths PG, Gorman GS, et al. Multi-system neurological disease is common in patients with OPA1 mutations[J]. Brain, 2010, 133(Pt 3): 771-786. DOI: 10.1093/brain/awq007.
2.	MacVicar T, Langer T. OPA1 processing in cell death and disease-the long and short of it[J]. J Cell Sci, 2016, 129(12): 2297-2306. DOI: 10.1242/jcs.159186.
3.	Li Y, Li J, Jia X, et al. Genetic and clinical analyses of DOA and LHON in 304 Chinese patients with suspected childhood-onset hereditary optic neuropathy[J/OL]. PLoS One, 2017, 12(1): e0170090[2017-01-12]. https://pubmed.ncbi.nlm.nih.gov/28081242/. DOI: 10.1371/journal.pone.0170090.
4.	Caporali L, Magri S, Legati A, et al. ATPase domain AFG3L2 mutations alter OPA1 processing and cause optic neuropathy[J]. Ann Neurol, 2020, 88(1): 18-32. DOI: 10.1002/ana.25723.
5.	Chen J, Xu K, Zhang X, et al. Mutation screening of mitochondrial DNA as well as OPA1 and OPA3 in a Chinese cohort with suspected hereditary optic atrophy[J]. Invest Ophthalmol Vis Sci, 2014, 55(10): 6987-6995. DOI: 10.1167/iovs.14-14953.
6.	Yen MY, Wang AG, Lin YC, et al. Novel mutations of the OPA1 gene in Chinese dominant optic atrophy[J]. Ophthalmology, 2010, 117(2): 392-396. DOI: 10.1016/j.ophtha.2009.07.019.
7.	Lenaers G, Hamel C, Delettre C, et al. Dominant optic atrophy[J]. Orphanet J Rare Dis, 2012, 7: 46. DOI: 10.1186/1750-1172-7-46.
8.	Thomas PK, Workman JM, Thage O. Behr's syndrome. A family exhibiting pseudodominant inheritance[J]. J Neurol Sci, 1984, 64(2): 137-148. DOI: 10.1016/0022-510x(84)90032-7.
9.	Spiegel R, Saada A, Flannery PJ, et al. Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation[J]. J Med Genet, 2016, 53(2): 127-131. DOI: 10.1136/jmedgenet-2015-103361.
10.	Volker-Dieben HJ, Van Lith GH, Went LN, et al. A family with sex linked optic atrophy: ophthalmological and neurological aspects[J]. Doc Ophthalmol, 1974, 37(2): 307-326. DOI: 10.1007/BF00147264.
11.	Went LN, De Vries-De Mol EC, Volker-Dieben HJ. A family with apparently sex-linked optic atrophy[J]. J Med Genet, 1975, 12(1): 94-98. DOI: 10.1136/jmg.12.1.94.
12.	Assink JJ, Tijmes NT, ten Brink JB, et al. A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome[J]. Am J Hum Genet, 1997, 61(4): 934-939. DOI: 10.1086/514884.
13.	Anikster Y, Kleta R, Shaag A, et al. Type Ⅲ 3-methylglutaconic aciduria (optic atrophy plus syndrome, or costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews[J]. Am J Hum Genet, 2001, 69(6): 1218-1224. DOI: 10.1086/324651.
14.	Ryu SW, Jeong HJ, Choi M, et al. Optic atrophy 3 as a protein of the mitochondrial outer membrane induces mitochondrial fragmentation[J]. Cell Mol Life Sci, 2010, 67(16): 2839-2850. DOI: 10.1007/s00018-010-0365-z.
15.	Reynier P, Amati-Bonneau P, Verny C, et al. OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract[J/OL]. J Med Genet, 2004, 41(9): e110[2004-09-03]. https://pubmed.ncbi.nlm.nih.gov/15342707/. DOI: 10.1136/jmg.2003.016576.
16.	Votruba M. Molecular genetic basis of primary inherited optic neuropathies[J]. Eye (Lond), 2004, 18(11): 1126-1132. DOI: 10.1038/sj.eye.6701570.
17.	Sheffer RN, Zlotogora J, Elpeleg ON, et al. Behr's syndrome and 3-methylglutaconic aciduria[J]. Am J Ophthalmol, 1992, 114(4): 494-497. DOI: 10.1016/s0002-9394(14)71864-1.
18.	Lerman-Sagie T. Behr syndrome[J]. Pediatr Neurol, 1995, 12(1): 90. DOI: 10.1016/0887-8994(95)95022-u.
19.	Delettre C, Lenaers G, Griffoin JM, et al. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy[J]. Nat Genet, 2000, 26(2): 207-210. DOI: 10.1038/79936.
20.	Kerrison JB, Arnould VJ, Ferraz Sallum JM, et al. Genetic heterogeneity of dominant optic atrophy, Kjer type: identification of a second locus on chromosome 18q12.2-12.3[J]. Arch Ophthalmol, 1999, 117(6): 805-810. DOI: 10.1001/archopht.117.6.805.
21.	Koch A, Thiemann M, Grabenbauer M, et al. Dynamin-like protein 1 is involved in peroxisomal fission[J]. J Biol Chem, 2003, 278(10): 8597-8605. DOI: 10.1074/jbc.M211761200.
22.	Tilokani L, Nagashima S, Paupe V, et al. Mitochondrial dynamics: overview of molecular mechanisms[J]. Essays Biochem, 2018, 62(3): 341-360. DOI: 10.1042/EBC20170104.
23.	Gerber S, Charif M, Chevrollier A, et al. Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission[J]. Brain, 2017, 140(10): 2586-2596. DOI: 10.1093/brain/awx219.
24.	Keller N, Paketci C, Edem P, et al. De novo DNM1L variant presenting with severe muscular atrophy, dystonia and sensory neuropathy[J/OL]. Eur J Med Genet, 2021, 64(2): 104134[2020-12-31]. https://pubmed.ncbi.nlm.nih.gov/33387674/. DOI: 10.1016j.ejmg./2020.104134.
25.	Barbet F, Gerber S, Hakiki S, et al. A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q[J]. Eur J Hum Genet, 2003, 11(12): 966-971. DOI: 10.1038/sj.ejhg.5201070.
26.	Hanein S, Perrault I, Roche O, et al. TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy[J]. Am J Hum Genet, 2009, 84(4): 493-498. DOI: 10.1016/j.ajhg.2009.03.003.
27.	Meyer E, Michaelides M, Tee LJ, et al. Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy[J]. Mol Vis, 2010, 16: 650-664.
28.	Carelli V, Schimpf S, Fuhrmann N, et al. A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16[J]. Hum Mol Genet, 2011, 20(10): 1893-1905. DOI: 10.1093/hmg/ddr071.
29.	Chen XJ, Wang X, Kaufman BA, et al. Aconitase couples metabolic regulation to mitochondrial DNA maintenance[J]. Science, 2005, 307(5710): 714-717. DOI: 10.1126/science.1106391.
30.	Charif M, Gueguen N, Ferre M, et al. Dominant ACO2 mutations are a frequent cause of isolated optic atrophy[J/OL]. Brain Commun, 2021, 3(2): fcab063[2020-04-07]. https://pubmed./ncbi.nlm.nih.gov/34056600/. DOI: 10.1093/braincomms/fcab063.
31.	Spiegel R, Pines O, Ta-Shma A, et al. Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2[J]. Am J Hum Genet, 2012, 90(3): 518-523. DOI: 10.1016/j.ajhg.2012.01.009.
32.	Srivastava S, Gubbels CS, Dies K, et al. Increased survival and partly preserved cognition in a patient with ACO2-related disease secondary to a novel variant[J]. J Child Neurol, 2017, 32(9): 840-845. DOI: 10.1177/0883073817711527.
33.	Sadat R, Barca E, Masand R, et al. Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency[J]. Mol Genet Metab, 2016, 118(1): 28-34. DOI: 10.1016/j.ymgme.2016.03.004.
34.	Charif M, Nasca A, Thompson K, et al. Neurologic phenotypes associated with mutations in RTN4IP1 (OPA10) in children and young adults[J]. JAMA Neurol, 2018, 75(1): 105-113. DOI: 10.1001/jamaneurol.2017.2065.
35.	Angebault C, Guichet PO, Talmat-Amar Y, et al. Recessive mutations in RTN4IP1 cause isolated and syndromic optic neuropathies[J]. Am J Hum Genet, 2015, 97(5): 754-760. DOI: 10.1016/j.ajhg.2015.09.012.
36.	Okamoto N, Miya F, Hatsukawa Y, et al. Siblings with optic neuropathy and RTN4IP1 mutation[J]. J Hum Genet, 2017, 62(10): 927-929. DOI: 10.1038/jhg.2017.68.
37.	Hartmann B, Wai T, Hu H, et al. Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation[J/OL]. Elife, 2016, 5: e16078[2016-08-06]. https://pubmed.ncbi.nlm.nih.gov/27495975/. DOI: 10.7554/eLife.16078.
38.	Patron M, Sprenger HG, Langer T. m-AAA proteases, mitochondrial calcium homeostasis and neurodegeneration[J]. Cell Res, 2018, 28(3): 296-306. DOI: 10.1038/cr.2018.17.
39.	Baderna V, Schultz J, Kearns LS, et al. A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy[J]. Acta Neuropathol Commun, 2020, 8(1): 93. DOI: 10.1186/s40478-020-00975-w.
40.	Cagnoli C, Stevanin G, Brussino A, et al. Missense mutations in the AFG3L2 proteolytic domain account for approximately 1.5% of European autosomal dominant cerebellar ataxias[J]. Hum Mutat, 2010, 31(10): 1117-1124. DOI: 10.1002/humu.21342.
41.	Pierson TM, Adams D, Bonn F, et al. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases[J/OL]. PLoS Genet, 2011, 7(10): e1002325[2011-10-25]. https://pubmed.ncbi.nlm.nih.gov/22022284/. DOI: 10.1371/journal.pgen.1002325.
42.	Piro-Megy C, Sarzi E, Tarres-Sole A, et al. Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy[J]. J Clin Invest, 2020, 130(1): 143-156. DOI: 10.1172/JCI128513.
43.	Jurkute N, Leu C, Pogoda HM, et al. SSBP1 mutations in dominant optic atrophy with variable retinal degeneration[J]. Ann Neurol, 2019, 86(3): 368-383. DOI: 10.1002/ana.25550.
44.	Del Dotto V, Ullah F, Di Meo I, et al. SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder[J]. J Clin Invest, 2020, 130(1): 108-125. DOI: 10.1172/JCI128514.

1. Yu-Wai-Man P, Griffiths PG, Gorman GS, et al. Multi-system neurological disease is common in patients with OPA1 mutations[J]. Brain, 2010, 133(Pt 3): 771-786. DOI: 10.1093/brain/awq007.
2. MacVicar T, Langer T. OPA1 processing in cell death and disease-the long and short of it[J]. J Cell Sci, 2016, 129(12): 2297-2306. DOI: 10.1242/jcs.159186.
3. Li Y, Li J, Jia X, et al. Genetic and clinical analyses of DOA and LHON in 304 Chinese patients with suspected childhood-onset hereditary optic neuropathy[J/OL]. PLoS One, 2017, 12(1): e0170090[2017-01-12]. https://pubmed.ncbi.nlm.nih.gov/28081242/. DOI: 10.1371/journal.pone.0170090.
4. Caporali L, Magri S, Legati A, et al. ATPase domain AFG3L2 mutations alter OPA1 processing and cause optic neuropathy[J]. Ann Neurol, 2020, 88(1): 18-32. DOI: 10.1002/ana.25723.
5. Chen J, Xu K, Zhang X, et al. Mutation screening of mitochondrial DNA as well as OPA1 and OPA3 in a Chinese cohort with suspected hereditary optic atrophy[J]. Invest Ophthalmol Vis Sci, 2014, 55(10): 6987-6995. DOI: 10.1167/iovs.14-14953.
6. Yen MY, Wang AG, Lin YC, et al. Novel mutations of the OPA1 gene in Chinese dominant optic atrophy[J]. Ophthalmology, 2010, 117(2): 392-396. DOI: 10.1016/j.ophtha.2009.07.019.
7. Lenaers G, Hamel C, Delettre C, et al. Dominant optic atrophy[J]. Orphanet J Rare Dis, 2012, 7: 46. DOI: 10.1186/1750-1172-7-46.
8. Thomas PK, Workman JM, Thage O. Behr's syndrome. A family exhibiting pseudodominant inheritance[J]. J Neurol Sci, 1984, 64(2): 137-148. DOI: 10.1016/0022-510x(84)90032-7.
9. Spiegel R, Saada A, Flannery PJ, et al. Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation[J]. J Med Genet, 2016, 53(2): 127-131. DOI: 10.1136/jmedgenet-2015-103361.
10. Volker-Dieben HJ, Van Lith GH, Went LN, et al. A family with sex linked optic atrophy: ophthalmological and neurological aspects[J]. Doc Ophthalmol, 1974, 37(2): 307-326. DOI: 10.1007/BF00147264.
11. Went LN, De Vries-De Mol EC, Volker-Dieben HJ. A family with apparently sex-linked optic atrophy[J]. J Med Genet, 1975, 12(1): 94-98. DOI: 10.1136/jmg.12.1.94.
12. Assink JJ, Tijmes NT, ten Brink JB, et al. A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome[J]. Am J Hum Genet, 1997, 61(4): 934-939. DOI: 10.1086/514884.
13. Anikster Y, Kleta R, Shaag A, et al. Type Ⅲ 3-methylglutaconic aciduria (optic atrophy plus syndrome, or costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews[J]. Am J Hum Genet, 2001, 69(6): 1218-1224. DOI: 10.1086/324651.
14. Ryu SW, Jeong HJ, Choi M, et al. Optic atrophy 3 as a protein of the mitochondrial outer membrane induces mitochondrial fragmentation[J]. Cell Mol Life Sci, 2010, 67(16): 2839-2850. DOI: 10.1007/s00018-010-0365-z.
15. Reynier P, Amati-Bonneau P, Verny C, et al. OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract[J/OL]. J Med Genet, 2004, 41(9): e110[2004-09-03]. https://pubmed.ncbi.nlm.nih.gov/15342707/. DOI: 10.1136/jmg.2003.016576.
16. Votruba M. Molecular genetic basis of primary inherited optic neuropathies[J]. Eye (Lond), 2004, 18(11): 1126-1132. DOI: 10.1038/sj.eye.6701570.
17. Sheffer RN, Zlotogora J, Elpeleg ON, et al. Behr's syndrome and 3-methylglutaconic aciduria[J]. Am J Ophthalmol, 1992, 114(4): 494-497. DOI: 10.1016/s0002-9394(14)71864-1.
18. Lerman-Sagie T. Behr syndrome[J]. Pediatr Neurol, 1995, 12(1): 90. DOI: 10.1016/0887-8994(95)95022-u.
19. Delettre C, Lenaers G, Griffoin JM, et al. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy[J]. Nat Genet, 2000, 26(2): 207-210. DOI: 10.1038/79936.
20. Kerrison JB, Arnould VJ, Ferraz Sallum JM, et al. Genetic heterogeneity of dominant optic atrophy, Kjer type: identification of a second locus on chromosome 18q12.2-12.3[J]. Arch Ophthalmol, 1999, 117(6): 805-810. DOI: 10.1001/archopht.117.6.805.
21. Koch A, Thiemann M, Grabenbauer M, et al. Dynamin-like protein 1 is involved in peroxisomal fission[J]. J Biol Chem, 2003, 278(10): 8597-8605. DOI: 10.1074/jbc.M211761200.
22. Tilokani L, Nagashima S, Paupe V, et al. Mitochondrial dynamics: overview of molecular mechanisms[J]. Essays Biochem, 2018, 62(3): 341-360. DOI: 10.1042/EBC20170104.
23. Gerber S, Charif M, Chevrollier A, et al. Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission[J]. Brain, 2017, 140(10): 2586-2596. DOI: 10.1093/brain/awx219.
24. Keller N, Paketci C, Edem P, et al. De novo DNM1L variant presenting with severe muscular atrophy, dystonia and sensory neuropathy[J/OL]. Eur J Med Genet, 2021, 64(2): 104134[2020-12-31]. https://pubmed.ncbi.nlm.nih.gov/33387674/. DOI: 10.1016j.ejmg./2020.104134.
25. Barbet F, Gerber S, Hakiki S, et al. A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q[J]. Eur J Hum Genet, 2003, 11(12): 966-971. DOI: 10.1038/sj.ejhg.5201070.
26. Hanein S, Perrault I, Roche O, et al. TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy[J]. Am J Hum Genet, 2009, 84(4): 493-498. DOI: 10.1016/j.ajhg.2009.03.003.
27. Meyer E, Michaelides M, Tee LJ, et al. Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy[J]. Mol Vis, 2010, 16: 650-664.
28. Carelli V, Schimpf S, Fuhrmann N, et al. A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16[J]. Hum Mol Genet, 2011, 20(10): 1893-1905. DOI: 10.1093/hmg/ddr071.
29. Chen XJ, Wang X, Kaufman BA, et al. Aconitase couples metabolic regulation to mitochondrial DNA maintenance[J]. Science, 2005, 307(5710): 714-717. DOI: 10.1126/science.1106391.
30. Charif M, Gueguen N, Ferre M, et al. Dominant ACO2 mutations are a frequent cause of isolated optic atrophy[J/OL]. Brain Commun, 2021, 3(2): fcab063[2020-04-07]. https://pubmed./ncbi.nlm.nih.gov/34056600/. DOI: 10.1093/braincomms/fcab063.
31. Spiegel R, Pines O, Ta-Shma A, et al. Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2[J]. Am J Hum Genet, 2012, 90(3): 518-523. DOI: 10.1016/j.ajhg.2012.01.009.
32. Srivastava S, Gubbels CS, Dies K, et al. Increased survival and partly preserved cognition in a patient with ACO2-related disease secondary to a novel variant[J]. J Child Neurol, 2017, 32(9): 840-845. DOI: 10.1177/0883073817711527.
33. Sadat R, Barca E, Masand R, et al. Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency[J]. Mol Genet Metab, 2016, 118(1): 28-34. DOI: 10.1016/j.ymgme.2016.03.004.
34. Charif M, Nasca A, Thompson K, et al. Neurologic phenotypes associated with mutations in RTN4IP1 (OPA10) in children and young adults[J]. JAMA Neurol, 2018, 75(1): 105-113. DOI: 10.1001/jamaneurol.2017.2065.
35. Angebault C, Guichet PO, Talmat-Amar Y, et al. Recessive mutations in RTN4IP1 cause isolated and syndromic optic neuropathies[J]. Am J Hum Genet, 2015, 97(5): 754-760. DOI: 10.1016/j.ajhg.2015.09.012.
36. Okamoto N, Miya F, Hatsukawa Y, et al. Siblings with optic neuropathy and RTN4IP1 mutation[J]. J Hum Genet, 2017, 62(10): 927-929. DOI: 10.1038/jhg.2017.68.
37. Hartmann B, Wai T, Hu H, et al. Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation[J/OL]. Elife, 2016, 5: e16078[2016-08-06]. https://pubmed.ncbi.nlm.nih.gov/27495975/. DOI: 10.7554/eLife.16078.
38. Patron M, Sprenger HG, Langer T. m-AAA proteases, mitochondrial calcium homeostasis and neurodegeneration[J]. Cell Res, 2018, 28(3): 296-306. DOI: 10.1038/cr.2018.17.
39. Baderna V, Schultz J, Kearns LS, et al. A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy[J]. Acta Neuropathol Commun, 2020, 8(1): 93. DOI: 10.1186/s40478-020-00975-w.
40. Cagnoli C, Stevanin G, Brussino A, et al. Missense mutations in the AFG3L2 proteolytic domain account for approximately 1.5% of European autosomal dominant cerebellar ataxias[J]. Hum Mutat, 2010, 31(10): 1117-1124. DOI: 10.1002/humu.21342.
41. Pierson TM, Adams D, Bonn F, et al. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases[J/OL]. PLoS Genet, 2011, 7(10): e1002325[2011-10-25]. https://pubmed.ncbi.nlm.nih.gov/22022284/. DOI: 10.1371/journal.pgen.1002325.
42. Piro-Megy C, Sarzi E, Tarres-Sole A, et al. Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy[J]. J Clin Invest, 2020, 130(1): 143-156. DOI: 10.1172/JCI128513.
43. Jurkute N, Leu C, Pogoda HM, et al. SSBP1 mutations in dominant optic atrophy with variable retinal degeneration[J]. Ann Neurol, 2019, 86(3): 368-383. DOI: 10.1002/ana.25550.
44. Del Dotto V, Ullah F, Di Meo I, et al. SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder[J]. J Clin Invest, 2020, 130(1): 108-125. DOI: 10.1172/JCI128514.

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